Code System Concept

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Code System Concept

Code System Concept Code	1231284001
Code System Concept Name	Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
Code System Preferred Concept Name	Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	06/30/2022
SDO Date Revised	06/30/2022
Description	A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5072055011	Generalised DDEB (generalised dystrophic epidermolysis bullosa)	Active	Synonym	false	false
5072056012	Generalized DDEB (generalized dystrophic epidermolysis bullosa)	Active	Synonym	false	false
5072057015	Autosomal dominant generalized dystrophic epidermolysis bullosa	Active	Synonym	false	false
5072058013	Autosomal dominant generalised dystrophic epidermolysis bullosa	Active	Synonym	false	false
5072061014	DDEB (dominant dystrophic epidermolysis bullosa) intermediate	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Generalized dystrophic epidermolysis bullosa (disorder) {254188009 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,